Varaico: Literature-Extracted Genetic Variants

PLEC

667 papers

RefSeq Summary

Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of th...

Pfam Domains

S10_plectinaa 7–101UCSCPlectin/S10 domain

CHaa 69–173UCSCCalponin homology (CH) domain

CHaa 185–291UCSCCalponin homology (CH) domain

Spectrin_4aa 417–516UCSCSpectrin-like repeat

Spectrin_3aa 752–819UCSCSpectrin-like repeat

SH3_10aa 820–886UCSCSH3 domain

Gene Aliases

HGNC Name

plectin

HGNC Previous Symbols

EBS1; PLEC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_201378.4

p.Q1713*

c.5137C>T

Surrounding Variants

2 papers

NM_201379.3

p.Q1702_E1704delFs

c.5105_5112del8

1 paper

NM_000445.5

p.E1753fs

c.5257_5258fs

5 papers

NM_201384.3

p.E1726insFs

c.5176dupG

NM_000445.5

p.E1753insFs

c.5257dupG

NM_201380.4

p.E1863insFs

c.5588_5589insG

2 papers

NM_201384.3

p.E1726fs

c.5176_5177fs

NM_000445.5

p.E1753fs

c.5257_5258fs

1 paper

NM_201384.3

p.Q1728E

c.5182C>G

5 papers

NM_000445.5

p.Q1757*

c.5269C>T

NM_201384.3

p.Q1730*

c.5188C>T

NM_201378.4

p.Q1716*

c.5146C>T

1 paper

NM_201378.4

p.L1704_R1705del2

c.5110_5114del6

1 paper

NM_201384.3

p.R1719Q

c.5156G>A

1 paper

NM_201384.3

p.E1735K

c.5203G>A

1 paper

NM_201384.3

p.R1719W

c.5155C>T

2 papers

NM_201378.4

p.I1702_L1704delFs

c.5105_5112del8

2 papers

NM_201381.3

p.E1702_L1704delFs

c.5105_5112del8